ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Summary
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Known Variants416 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12652878 | 5:60,164,776 | C/A | — | — |
| rs886060717 | 5:60,169,679 | T/G | — | uncertain significance |
| rs549186090 | 5:60,169,717 | A/C | — | uncertain significance |
| rs886060718 | 5:60,169,718 | G/C | — | uncertain significance |
| rs181536191 | 5:60,169,798 | C/T | — | uncertain significance |
| rs1000325333 | 5:60,169,840 | G/C | — | uncertain significance |
| rs4647158 | 5:60,169,859 | A/G | — | benign |
| rs4647157 | 5:60,169,923 | G/T | — | benign |
| rs886060719 | 5:60,169,980 | A/T | — | uncertain significance |
| rs4647156 | 5:60,169,984 | G/A | — | benign |
| rs4647155 | 5:60,170,003 | C/A | — | benign |
| rs1747930621 | 5:60,170,065 | G/C | — | uncertain significance |
| rs4647153 | 5:60,170,205 | A/G | — | likely benign |
| rs1747937844 | 5:60,170,326 | A/G | — | uncertain significance |
| rs567684336 | 5:60,170,329 | T/C | — | uncertain significance |
| rs3117 | 5:60,170,337 | A/G | — | benign |
| rs4647152 | 5:60,170,406 | G/A | — | benign |
| rs377745901 | 5:60,170,435 | A/T | — | uncertain significance |
| rs1747942027 | 5:60,170,443 | C/T | — | likely benign |
| rs1450986229 | 5:60,170,450 | C/T | — | uncertain significance |
| rs374154824 | 5:60,170,463 | G/A | — | likely benign |
| rs2112451900 | 5:60,170,469 | G/C | — | likely benign |
| rs368676801 | 5:60,170,474 | C/G | — | uncertain significance |
| rs1039371028 | 5:60,170,477 | C/T | — | uncertain significance |
| rs543517781 | 5:60,170,484 | C/T | — | likely benign |
| rs754566666 | 5:60,170,485 | G/A | — | uncertain significance |
| rs138752036 | 5:60,170,493 | T/C | — | likely benign |
| rs879255338 | 5:60,170,504 | T/C | — | uncertain significance |
| rs1326878413 | 5:60,170,512 | T/C | — | uncertain significance |
| rs2112452038 | 5:60,170,514 | A/G | — | likely benign |
| rs770666820 | 5:60,170,516 | A/G | — | likely benign |
| rs2112452047 | 5:60,170,518 | A/C | — | likely benign |
| rs2531734892 | 5:60,170,519 | A/T | — | likely benign |
| rs1196648062 | 5:60,170,527 | T/C | — | likely benign |
| rs4647151 | 5:60,170,558 | T/C | — | benign |
| rs4647150 | 5:60,170,605 | T/C | — | benign |
| rs17332991 | 5:60,179,360 | C/A | regulatory region variant | — |
| rs4647131 | 5:60,183,074 | T/C | — | benign |
| rs1482664387 | 5:60,183,266 | C/T | — | likely pathogenic |
| rs2531763100 | 5:60,183,267 | C/G | — | uncertain significance |
| rs201915477 | 5:60,183,272 | C/A | — | uncertain significance |
| rs1748427813 | 5:60,183,273 | A/G | — | likely benign |
| rs543291626 | 5:60,183,284 | C/G | — | conflicting classifications of pathogenicity |
| rs546328344 | 5:60,183,286 | G/C | — | uncertain significance |
| rs912724203 | 5:60,183,294 | T/C | — | likely benign |
| rs774429942 | 5:60,183,297 | G/A | — | likely benign |
| rs762230648 | 5:60,183,300 | T/G | — | likely benign |
| rs200513212 | 5:60,183,303 | A/C | — | likely benign |
| rs281875221 | 5:60,183,306 | C/A | missense variant | pathogenic |
| rs4647130 | 5:60,183,309 | A/G | — | benign |
| rs773624589 | 5:60,183,318 | G/A | — | likely benign |
| rs199590588 | 5:60,183,319 | T/C | — | uncertain significance |
| rs141898557 | 5:60,183,321 | G/T | — | pathogenic |
| rs550304879 | 5:60,183,332 | T/C | — | uncertain significance |
| rs1748430987 | 5:60,183,336 | A/G | — | likely benign |
| rs1748431254 | 5:60,183,339 | A/G | — | likely benign |
| rs751073213 | 5:60,183,342 | A/G | — | likely benign |
| rs757197052 | 5:60,183,345 | T/C | — | likely benign |
| rs897535441 | 5:60,183,348 | C/T | — | pathogenic |
| rs372237310 | 5:60,183,349 | T/C | — | pathogenic |
| rs1579992162 | 5:60,183,355 | A/G | — | likely benign |
| rs759739190 | 5:60,183,356 | T/G | — | likely benign |
| rs749484372 | 5:60,183,361 | G/A | — | likely benign |
| rs2531763512 | 5:60,183,362 | G/T | — | likely benign |
| rs2531763517 | 5:60,183,363 | C/A | — | likely benign |
| rs2306350 | 5:60,186,618 | T/C | — | benign |
| rs763784608 | 5:60,186,697 | A/T | — | likely benign |
| rs2619904 | 5:60,186,701 | C/T | — | likely benign |
| rs773778782 | 5:60,186,703 | G/C | — | likely benign |
| rs1261787731 | 5:60,186,705 | A/G | — | likely benign |
| rs1748524714 | 5:60,186,708 | A/T | — | likely benign |
| rs1290416270 | 5:60,186,715 | C/A | — | pathogenic |
| rs1748524884 | 5:60,186,716 | C/G | — | uncertain significance |
| rs2531769909 | 5:60,186,724 | T/C | — | uncertain significance |
| rs2531769921 | 5:60,186,728 | C/T | — | likely benign |
| rs2531769949 | 5:60,186,733 | A/G | — | uncertain significance |
| rs138173863 | 5:60,186,734 | T/C | — | conflicting classifications of pathogenicity |
| rs753663016 | 5:60,186,740 | G/T | — | pathogenic |
| rs786205573 | 5:60,186,741 | C/T | missense variant | pathogenic |
| rs755213944 | 5:60,186,742 | A/C | — | uncertain significance |
| rs141845482 | 5:60,186,745 | C/T | — | conflicting classifications of pathogenicity |
| rs1031250600 | 5:60,186,748 | C/A | — | uncertain significance |
| rs2531770053 | 5:60,186,754 | T/A | — | pathogenic |
| rs1257945890 | 5:60,186,763 | C/A | — | pathogenic |
| rs989442602 | 5:60,186,766 | T/C | — | uncertain significance |
| rs766822890 | 5:60,186,767 | A/C | — | likely benign |
| rs747530954 | 5:60,186,772 | T/C | — | uncertain significance |
| rs1350620332 | 5:60,186,773 | A/G | — | likely benign |
| rs2531770156 | 5:60,186,778 | T/C | — | uncertain significance |
| rs1748527879 | 5:60,186,781 | G/A | — | likely pathogenic |
| rs1029101745 | 5:60,186,784 | C/T | — | uncertain significance |
| rs121434323 | 5:60,186,791 | G/T | stop gained | pathogenic |
| rs1231645293 | 5:60,186,797 | T/A | — | likely benign |
| rs772779979 | 5:60,186,800 | A/G | — | likely benign |
| rs1748529394 | 5:60,186,805 | C/T | — | uncertain significance |
| rs1336561357 | 5:60,186,806 | A/G | — | likely benign |
| rs2531770304 | 5:60,186,808 | C/T | — | uncertain significance |
| rs1173045461 | 5:60,186,812 | G/A | — | conflicting classifications of pathogenicity |
| rs760761028 | 5:60,186,815 | G/A | — | likely benign |
| rs373203544 | 5:60,186,817 | T/G | — | uncertain significance |
Showing 100 of 416 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.